tbuckley/cabot-search huggingface dataset:
P03 Utility of the infantile haemangioma referral score in optimizing referrals to a specialist centre
Authors: Robert Harrington, Marion Leahy, Berbie Byrne, Annette Murphy
Journal: British Journal of Dermatology (2023)

Abstract The Infantile Haemangioma Referral Score (IHReS) is a validated, decision-making tool designed to aid physicians in appropriate and timely referral of patients with infantile haemangiomas (IH) to specialist centres. Previous studies have assessed its usefulness in identifying patients who require referral; however, none have analysed its utility in identifying those who do not. We sought to assess the use of the IHReS score by GPs and paediatricians and to correlate the patients’ score with outcomes through retrospective, cross-sectional analysis of all new IH referrals to a dedicated IH clinic over 6 months. The IHReS was retrospectively applied using information from referral letters and dermatology clinic letters. Data on demographics, wait time and outcomes were analysed. Forty-four patients were identified (females, n = 23; males, n = 21). The mean age at referral was 30 (SD 48) weeks. Only three (7%) referrals had recorded the patient's IHReS. Overall, 17 (39%) patients did not satisfy criteria for referral when the IHReS was applied retrospectively. Of these, 10 (59%) were discharged on the first visit, 6 (35%) were offered follow-up and one did not attend. No patients in this group received propranolol. Of the 27 (61%) patients who met the IHReS criteria 12 (44%) required propranolol, 11 (41%) were monitored for potential treatment, and 4 (15%) were discharged. The IHReS is a useful tool for identifying patients with IH who do not require referral to a specialist centre. It is underutilized by GPs and paediatricians and its use could reduce the number of inappropriate referrals to dermatology.
P26 Leukaemia cutis as the first manifestation of acute myeloid leukaemia
Authors: Pablo Lopez Balboa, Jack Bartram, Anna Martinez, Gabriela Petrof
Journal: British Journal of Dermatology (2023)

Abstract Leukaemia is the most frequent malignancy of childhood, accounting for approximately 30% of all malignancies. Acute leukaemia may present in a variety of extramedullary manifestations, the commonest being leukaemia cutis (LC). LC is the infiltration of the epidermis, dermis or subcutis by neoplastic leukocytes with skin lesions preceding the development of leukaemia in the peripheral blood or bone marrow in just 2–3% of cases. A 6-month-old baby girl was reviewed due to multiple skin lesions which appeared on her left forearm 2 months previously, and spread widely, showing over 50 in the following weeks. They were well-circumscribed, nontender, violaceous nodules. She was clinically well and thriving with no lymphadenopathy or organomegaly. Blood tests and abdominal ultrasound were normal. A skin biopsy of a nodule demonstrated an infiltrate of medium-sized atypical cells involving the dermis and subcutis. Immunostaining showed CD45 expression and the Ki67 proliferation index was high, in keeping with a leukaemic infiltration. Cytogenetics performed on the skin biopsy showed KMT2A rearrangement by FISH. Bone marrow aspirate confirmed the diagnosis of acute myeloid leukaemia with monoblastic morphology, and cytogenetics confirmed the rearrangement as a KMT2A–MLLT10 fusion, which is classified as poor cytogenetic risk. Cerebrospinal fluid analysis was negative. It is vital to get a histological diagnosis (with cytogenetics) in a child presenting with violaceus nodular lesions even if the child is well. Importantly, LC can present with a normal full blood count. A bone marrow aspiration is paramount to confirm the diagnosis. Once leukaemia is diagnosed, cytogenetics plays a key role in stratifying treatment intensity.
P23 Stabilization of aggressive disease in <i>NRAS</i> kaposiform lymphangiomatosis with sirolimus
Authors: Miteshkumar Ramwani, Claire O’Neill, Satyamaanasa Polubothu, Lea Solman
Journal: British Journal of Dermatology (2023)

Abstract Kaposiform lymphangiomatosis (KLA) is a rare disorder of lymphatic vasculature characterized by infiltrative and multifocal lymphatic abnormalities. The disease course is often complicated by a severe coagulopathy and frequently involves the central conducting lymphatic vessels leading to large-volume chylous pleural/pericardial effusions and ascites. There is a significant morbidity and mortality with 5-year survival from time of diagnosis estimated to be 50%. The genetic basis of KLA has recently been described as somatic activating mutations of the RAS–MAPK pathway. A 14-month-old girl, previously well, presented with a massive pericardial effusion leading to cardiac tamponade and cardiac arrest, requiring emergency pericardial drainage and extracorporeal membrane oxygenation. The patient had a profound thrombocytopenia not responding to repeat transfusion. MRI of the thorax revealed extensive cystic lesions consistent with diffuse lymphatic disease. Clinical suspicion of KLA was confirmed by mediastinal biopsy revealing characteristic kaposiform spindle-shaped lymphatic endothelial cells. Targeted next-generation sequencing revealed a mutation in NRAS (p.Q61R) in 2% of sequenced reads. Treatment with mTOR inhibitor sirolimus plus vincristine rapidly stabilized her refractory thrombocytopenia and led to a rapid clinical improvement enabling extubation within 72 h. Repeat MRI 2 months later confirmed reduced lymphatic disease. Lymphatic disease remains stable after 18 months of sirolimus monotherapy with no significant adverse effects. KLA is an aggressive mosaic disease of the lymphatic vasculature with high morbidity and mortality. Early diagnosis is key to enabling targeted medical therapies in this cohort. Clinicians should be aware of this differential when presented with high-volume effusions and refractory thrombocytopenia.
O09 Long-term safety of ustekinumab in paediatric patients with moderate-to-severe plaque psoriasis: results from an ongoing observational study
Authors: Emmanuel Mahé, Anja Geldhof, Evgenia Movshovich, Joerg Schreiber, Sandra Malynn, Michela Efficace, Marieke M B Seyger
Journal: British Journal of Dermatology (2023)

Abstract The European Medicines Agency approved ustekinumab for psoriasis treatment in adolescents (12–17 years) in 2015 (CADMUS trial), and children (6–11 years) in 2020. Interim results are reported from a post-authorization study (NCT03218488) evaluating the long-term safety profile of ustekinumab. This ongoing, prospective, observational, multicentre study enrolled patients (6–17 years) diagnosed with moderate-to-severe plaque psoriasis initiating ustekinumab. Clinical data and all adverse events (AEs) through approximately 54 months (data cut-off) are reported. Younger children (6–11 years) were included later in the study. Data are reported by age (younger cohort, 6–11; older cohort, 12–17). At data cut-off, 85 patients, 10 younger (median follow-up, 0.24 years) and 75 older (median follow-up, 1.69 years), had been enrolled. Ustekinumab therapy was discontinued in 11 (12.9%) patients, all from the older cohort. Overall, 50/85 (58.8%) patients reported 290 AEs and 27 (31.8%) reported 96 AEs considered related to ustekinumab. The most commonly reported AEs were nasopharyngitis (n = 8, 9.4%), fatigue (n = 7, 8.2%) and headache (n = 7, 8.2%). Most AEs were mild and did not result in treatment change. Nine (10.6%) patients reported 13 serious AEs; one (appendicitis) was considered related to ustekinumab. One younger patient reported two AEs considered related to ustekinumab, although neither was serious and therapy continued. No malignancies or deaths were reported in either cohort. These findings revealed no new safety concerns and are generally consistent with the known safety profile for ustekinumab in paediatric patients.
P24 Recurrent skin ulcerations as an isolated manifestation of ISG15 deficiency
Authors: Jadesola Oyedepo, Elena Moraitis, Lea Solman
Journal: British Journal of Dermatology (2023)

Abstract Type I interferonopathies are characterized by a very broad phenotypic spectrum; however, some overlapping clinical features are seen across the type I interferonopathies, most particularly brain and skin involvement. We report a female patient presenting at 7 months of age with ulcerations in her groin and axilla. The lesions in her axilla healed; however, she continued having recurrent ulcerations in both sides of her groin and she developed lipoatrophy of the lower abdomen. Skin biopsy revealed deep-seated inflammation with abnormal adipose tissue; no bacteria were isolated. Extensive immunology blood work-up did not reveal any abnormalities, and the inflammatory markers were normal. Because of the extent of the clinical findings and pending results of genetic screening with targeted next-generation sequencing, we commenced methotrexate at 1 year of age (15 mg m–2). Following the initiation of methotrexate, there was marked improvement in the clinical features, with resolution of active skin ulceration. Genetic screening revealed a homozygous stop mutation in ISG15 p.Q16X. A CT scan of her head did not show any calcifications. Methotrexate was stopped at age 3 years. She remains well with no further skin ulcerations, and her development continues to be age appropriate. ISG15 deficiency is a type I interferonopathy, previously described in association with intracranial calcifications and increased susceptibility to mycobacteria infections. However, more recent reports have described skin ulcerations as a main finding in addition to neurological and immunological manifestations. Our patient is not showing any signs of neurological or other immunological manifestations but remains under careful monitoring.
P27 Dermatology team huddle
Authors: Sophie Constantinou, Janet Angus
Journal: British Journal of Dermatology (2023)

Abstract When I started working in the BRI Dermatology department, I noticed that team morale appeared to have been impacted by the COVID-19 pandemic, and also that the department was not running as efficiently as it could be. To improve departmental efficiency, team-working and staff wellbeing following the COVID-19 pandemic, I surveyed staff to assess their thoughts on departmental efficiency, team-working and a daily team ‘Huddle’. I presented my findings in a departmental meeting, following which a daily team Huddle was initiated. All team members were invited. I created a Huddle proforma which included a checklist troubleshooting issues likely to arise in the day, a moment for a wellbeing ‘check-in’ and a celebration of staff achievement. The Huddle team leader rotated daily. After 6 months, I re-surveyed staff: 92% strongly agreed/agreed that patient care was delivered efficiently (60% pre-Huddle, P = 0.01); 96% of staff strongly agreed/agreed that the team worked well together (71% pre-Huddle, P = 0.03); 62% strongly agreed/agreed that the department was running smoothly/efficiently (33% pre-Huddle, P = 0.08). Staff strongly agreed that the Huddle had improved their wellbeing. Nonclinicians felt more confident to approach the on-call Registrar and Consultant. Respondents observed nonclinical staff were less likely to attend. The Huddle allowed staff to share information/concerns. Rotating the Huddle lead helped break down hierarchical barriers. Celebrating achievements boosted team morale and helped members feel valued. Recommendations include encouraging administrative/reception staff to attend and to set up virtual access for staff who work from home.
P15 A rare case of paediatric Cushing disease presenting as acne
Authors: Katie Grounds, Carla Thomas, Rami Hamadeh
Journal: British Journal of Dermatology (2023)

Abstract Cushing disease in children and adolescents is rare. Early detection and treatment are vital to reduce morbidity and mortality. We present the case of a 13-year-old female who was referred to dermatology with an acneiform rash on her face. During the consultation it was made apparent that the patient had noticed changes to her face over the past 6 months in which she described her face becoming swollen and ‘puffy’. She also reported irregular menstruation and hirsutism mainly to her back. Serum baseline tests at the time demonstrated no abnormalities, but further serum cortisol and free urinary cortisol were exceedingly high. Subsequently an MRI pituitary scan demonstrated a 3-mm microadenoma, in keeping with a diagnosis of Cushing disease. She has now been transferred to a tertiary paediatric endocrinology unit. This case highlights the importance of the dermatological manifestations of rare conditions such as this, and that the skin is often the window to many underlying medical conditions.
P07 Quality improvement project of acute referrals to the on-call dermatology service
Authors: Sindoora Jayaprakash, Dijon Millette, Farishta Khan
Journal: British Journal of Dermatology (2023)

Abstract With dermatology services now integrating neural networks and artificial intelligence into departments, the importance of technology to streamline services has been timely in light of the increased influx of referrals needing remote reviews from both community and secondary care. We performed a department quality improvement project to compare referrals made to the on-call dermatology service, Dudley Group NHS trust, during September 2019 and September 2020 against the ‘COVID-19: Clinical guidelines for the management of dermatology patients remotely’. Data were collected from telephone, paper and email referrals made in September 2019 and 2020. Referral data including patient demographics, nature and urgency of referrals, diagnosis, availability of medical photography and follow-up arrangements was collated on a Microsoft Excel Proforma. Of 74 total referrals (35 in 2019; 39 in 2020), hospital referrals in September 2020 (92%, n = 36) largely outweighed GP referrals (8%, n = 3). Urgent referrals made by hospital departments rose from 17% (n = 5 of 29) in September 2019 to 53% (n = 19 of 36) in September 2020. Medical photography, often essential for triage and diagnosis, was available only at the time of referral in 8.6% (n = 3) of cases in 2019 and 48.7% (n = 19) in 2020. The rise may be explained by an increased dependence on remote services. With current pressures placing greater demand on resources, there is a need for online referral systems. Moving away from emails, letters and phone calls ensures a less user-dependent interface. Medical photography can be implemented as an integral feature of referral. Online systems facilitate triage and remote management in keeping with dermatological guidelines.
P08 Linear IgA bullous dermatosis: treatment challenge
Authors: Suzana Ozanic Bulic, Alenka Gagro, Nives Pustisek, Monika Ulamec
Journal: British Journal of Dermatology (2023)

Abstract Linear IgA bullous dermatosis (LABD) is a rare idiopathic or drug-induced autoimmune blistering disease characterized by widespread annular blisters caused by IgA autoantibodies directed against different antigens of the basement membrane zone (BMZ) of the skin and mucosae. Linear deposits of IgA at the dermoepidermal junction are a dominant diagnostic feature. Dapsone is the most commonly used systemic treatment with complete remission achieved in most patients. A 15-month-old boy presented with widespread annular blisters, erosions and haemorrhagic crusts on the face, scalp, torso, extremities and genital skin. An episode of acute bronchitis preceded the skin lesions. The patient was otherwise healthy. A skin biopsy of a lesion showed subepidermal blistering with neutrophils and eosinophils in the superficial dermis. Direct immunofluorescence revealed linear IgA and discrete linear IgG deposits along the BMZ. Treatment with oral prednisone 1–2 mg kg–1 daily and dapsone 1–2 mg kg–1 daily resulted in modest control of LABD and prompted introducing concomitant medications in the following sequence, IVIG, methotrexate 10 mg weekly for 6 months, and ciclosporin 5 mg kg–1 daily over 4 months, all with moderate disease control. Prednisone was stopped after 2 years and the LABD cleared with dapsone 2 mg kg–1 daily. The attempt of tapering the dapsone resulted in a flare. The treatment of LABD is based on case reports and varies with the degree of involvement and identification of inciting factors. The severe, treatment-resistant LABD in our patient, managed by the multidisciplinary team and shared care with the parents, resulted in a good and safe treatment outcome.
Point-of-Care Capillary Blood Ketone Measurements and the Prediction of Future Ketoacidosis Risk in Type 1 Diabetes
Authors: Cimon Song, Sharon Dhaliwal, Priya Bapat, Daniel Scarr, Abdulmohsen Bakhsh, Dalton Budhram, Natasha J. Verhoeff, Alanna Weisman, Michael Fralick, Noah M. Ivers, David Z.I. Cherney, George Tomlinson, Leif Erik Lovblom, Doug Mumford, Bruce A. Perkins
Journal: Diabetes Care (2023)

OBJECTIVE Rather than during illness while diabetic ketoacidosis (DKA) is developing, we aimed to determine if levels of routine point-of-care capillary blood ketones could predict future DKA. RESEARCH DESIGN AND METHODS We examined previously collected data from placebo-assigned participants in an adjunct-to-insulin medication trial program that included measurement of fasted capillary blood ketone levels twice per week in a 2-month baseline period. The outcome was 6- to 12-month trial-adjudicated DKA. RESULTS DKA events occurred in 12 of 484 participants at a median of 105 (interquartile range 43, 199) days. Maximum ketone levels were higher in patient cases compared with in control patients (0.8 [0.6, 1.2] vs. 0.3 [0.2, 0.7] mmol/L; P = 0.002), with a nonparametric area under the receiver operating characteristic curve of 0.77 (95% CI 0.66–0.88). Ketone levels ≥0.8 mmol/L had a sensitivity of 64%, a specificity of 78%, and positive and negative likelihood ratios of 2.9 and 0.5, respectively. CONCLUSIONS This proof of concept that routine capillary ketone surveillance can identify individuals at high risk of future DKA implies a role for future technologies including continuous ketone monitoring.
Telomerase mRNA Enhances Human Skin Engraftment for Wound Healing
Authors: David F. Chang, Karem A. Court, Rhonda Holgate, Elizabeth A. Davis, Katie A. Bush, Andrew P. Quick, Aldona J. Spiegel, Maham Rahimi, John P. Cooke, Biana Godin
Journal: Advanced Healthcare Materials (2023)

Abstract Deep skin wounds represent a serious condition and frequently require split‐thickness skin grafts (STSG) to heal. The application of autologous human‐skin‐cell‐suspension (hSCS) requires less donor skin than STSG without compromising the healing capacity. Impaired function and replicative ability of senescent cutaneous cells in the aging skin affects healing with autologous hSCS. Major determinants of senescence are telomere erosion and DNA damage. Human telomerase reverse transcriptase (hTERT) adds telomeric repeats to the DNA and can protect against DNA damage. Herein, hTERT mRNA lipid nanoparticles (LNP) are proposed and evaluated for enhancing cellular engraftment and proliferation of hSCS. Transfection with optimized hTERT mRNA LNP system enables delivery and expression of mRNA in vitro in keratinocytes, fibroblasts, and in hSCS prepared from donors’ skin. Telomerase activity in hSCS is significantly increased. hTERT mRNA LNP enhance the generation of a partial‐thickness human skin equivalent in the mouse model, increasing hSCS engraftment (Lamin) and proliferation (Ki67), while reducing cellular senescence (p21) and DNA damage (53BP1).
P28 Traumatic anserine folliculosis: a cause of facial follicular papules
Authors: Shivani Parmar, Julia Gass, Claire Trayers, Niki Stefanos, Alana Durack
Journal: British Journal of Dermatology (2023)

Abstract Traumatic anserine folliculosis (TAF) is an infrequently reported condition, presenting with grouped follicular papules, usually on the face of young people, induced by repeated frictional trauma or pressure. A suggestive history may allow clinical differentiation of TAF from other folliculocentric keratotic disorders. We present three children diagnosed with TAF in our department: (i) A 12-year-old boy with asymmetry of the mental protuberance, presented with a 1-year history of scaly, lichenified erythema with monomorphic nonpigmented papules over the more prominent side; histology showed mild hyperkeratosis and some rudimentary hair follicles with keratin-filled follicular openings. (ii) A 7-year-old boy with a 1-year history of a hyperpigmented patch on the chin with multiple skin-coloured papules and a sandpaper feel; dermoscopy showed follicular papules with keratin plug; he had a habit of reading with his chin resting on his knee; the skin changes improved with topical retinoid and postural changes. (iii) A boy with follicular papules on one cheek since the age of 8 years, with history of persistent leaning his hand on his cheek while reading; the papules resolved with a change in posture, but similar changes arose at a new pressure area on his chin. The clinical features of grouped monomorphic skin-coloured follicular papules on an erythematous or hyperpigmented background, and a suggestive history, may allow the diagnosis of TAF. Described histological findings are hyperkeratosis, rudimentary follicles and dilated follicular openings filled with keratotic material. Management includes identifying and correcting postural habits; topical keratolytic agents and retinoids may also be beneficial.
O01 Clinical aspects of psoriasis flares and risk factors for developing a post-infectious flare in children with SARS-CoV-2 infection: data from the Chi-PsoCov registry
Authors: Emmanuel Mahé, Vito di Lernia, Anna Belloni Fortina, Aleksandra Lesiak, Piotr Brzezinski, Zeynep Topkarci, Nikolay Murashkin, Tiago Torres, Helena Vidaurri De La Cruz, Annabel Maruani, Anca Chiriac, Anne-Claire Bursztejn, Juul Van Den Reek, Roman Epishev, Maella Severino-Freire, Maria Akinde, Catalina Luca, Jayakar Thomas, Jinane Zitouni, Tess McPherson, Satveer Mahil, Catherine Smith, Carsten Flohr, Hervé Bachelez
Journal: British Journal of Dermatology (2023)

Abstract The international Chi-PsoCov registry showed that biologics did not increase the risk of severe forms of COVID-19 in children with psoriasis. It was shown that COVID-19 may induce de novo psoriasis or flares of known psoriasis. We focused on children who developed a flare of psoriasis after infection, phenotypic aspects of the flares, and searched for associated factors. We included 149 children from February 2021 to May 2022 in 14 countries. The 11 who developed de novo psoriasis were excluded. We excluded 160 children (M / F = 1; mean age 12.4 years; plaque psoriasis 64.7%). Psoriasis worsened within 1 month of onset of COVID-19 in 26 cases (17.4%). For other children, psoriasis improved (n = 1; 0.6%) or remained same (n = 122; 81.9%). In 24 patients whose condition worsened, the phenotype was unchanged, and in 2, there were phenotype changes: plaque psoriasis to guttate or inverse psoriasis. Demographic characteristics, phenotype/severity of psoriasis or COVID-19 severity were not associated with flares. Only the use of systemic treatments at the time of infection protected against the occurrence of flares (50.0% vs. 27.3%, P = 0.049). In this study SARS-CoV-2 infection was associated with psoriasis flares in 17% of cases. In the majority of cases that worsened, the phenotype preceding the infection was preserved. These flares are not associated with the severity of psoriasis, severity of COVID-19 or other clinical parameters. Only systemic treatments seem to reduce this risk, probably by ‘controlling’ the flare. It is possible that a genetic susceptibility, not explored here, also explains this susceptibility to infection.